Liliana Vercelli

Phenotypic heterogeneity of the 8344A>G mtDNA “MERRF” mutation

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Neurology · 2013 · 170 citations

A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score

Costanza Lamperti, Greta Fabbri, Liliana Vercelli et al. · Muscle & Nerve · 2010 · 151 citations · Full text

Muscle Function, Diagnosis, Orthopaedic Surgery +17

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Michelangelo Mancuso, Daniele Orsucci, C. Angelini et al. · Journal of Neurology · 2013 · 140 citations

Biology, Mendelian Disorder, Genetic Disorder +5

Large-Scale Population Analysis Challenges the Current Criteria for the Molecular Diagnosis of Fascioscapulohumeral Muscular Dystrophy

Isabella Scionti, Francesca Gabriella Greco, Giulia Ricci et al. · The American Journal of Human Genetics · 2012 · 123 citations · Full text

Genetic Analysis, Molecular Diagnosis, Mendelian Disorder +12

Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy

Giulia Ricci, Isabella Scionti, Francesco Sera et al. · Brain · 2013 · 119 citations · Full text